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GENE - TERM ANNOTATION REPORT

RGD ID: 12655767
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Atg12
Name: autophagy related 12
Acc ID: DOID:0080409
Term: familial adenomatous polyposis 1
Definition: A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/1651563 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Atg12 ISOATG12 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial adenomatous polyposis 1PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532
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